Mutagenetix > Incidental Mutation

Incidental Mutation 'R7605:Gabrr2'

588224

Institutional Source

Beutler Lab

Gene Symbol

Gabrr2

Ensembl Gene

ENSMUSG00000023267

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 2

Synonyms

MMRRC Submission

045675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33062999-33095865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33082560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 228 (D228G)

Ref Sequence

ENSEMBL: ENSMUSP00000024035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024035] [ENSMUST00000108162] [ENSMUST00000131920]

AlphaFold

P56476

Predicted Effect

probably damaging
Transcript: ENSMUST00000024035
AA Change: D228G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024035
Gene: ENSMUSG00000023267
AA Change: D228G

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	81	286	3.4e-53	PFAM
Pfam:Neur_chan_memb	293	454	1.9e-32	PFAM
transmembrane domain	472	489	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108162
AA Change: D203G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103797
Gene: ENSMUSG00000023267
AA Change: D203G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Neur_chan_LBD	57	261	9.7e-57	PFAM
Pfam:Neur_chan_memb	268	414	4.2e-36	PFAM
transmembrane domain	447	464	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131920
AA Change: D104G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118514
Gene: ENSMUSG00000023267
AA Change: D104G

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	162	3.3e-46	PFAM
Pfam:Neur_chan_memb	169	204	3.5e-14	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114337
Gene: ENSMUSG00000023267
AA Change: D48G

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	107	7.1e-28	PFAM
Pfam:Neur_chan_memb	114	219	1.1e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,881,899 (GRCm39)	L610P	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Asphd2	A	G	5: 112,539,807 (GRCm39)	W9R	probably damaging	Het
Blvrb	T	A	7: 27,165,218 (GRCm39)	H179Q	probably damaging	Het
Capn13	A	T	17: 73,652,132 (GRCm39)		probably null	Het
Casp6	A	T	3: 129,705,812 (GRCm39)	M160L	probably benign	Het
Chordc1	A	G	9: 18,215,668 (GRCm39)	E140G	probably benign	Het
Col24a1	A	T	3: 145,244,442 (GRCm39)	Y1572F	possibly damaging	Het
Cul9	A	G	17: 46,852,658 (GRCm39)	S235P	probably damaging	Het
Cyp2u1	A	T	3: 131,091,602 (GRCm39)	M306K	probably damaging	Het
Dhx33	A	G	11: 70,890,299 (GRCm39)	L240P	probably damaging	Het
Dna2	T	A	10: 62,796,054 (GRCm39)	D494E	probably benign	Het
Dnah7c	C	T	1: 46,671,470 (GRCm39)	R1620C	probably damaging	Het
Dpp8	G	A	9: 64,962,240 (GRCm39)	V427M	probably benign	Het
Dpt	G	A	1: 164,624,400 (GRCm39)	G34S	unknown	Het
Emb	T	A	13: 117,401,046 (GRCm39)	N198K	probably damaging	Het
Entpd5	T	G	12: 84,443,482 (GRCm39)	H62P	probably damaging	Het
Ep300	A	C	15: 81,505,353 (GRCm39)	M658L	unknown	Het
Epb41l4a	T	A	18: 33,930,504 (GRCm39)	D651V	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ephb2	A	T	4: 136,498,419 (GRCm39)	V220E	probably damaging	Het
Fam187a	T	A	11: 102,776,874 (GRCm39)	L226H	possibly damaging	Het
Fbxo42	G	A	4: 140,927,129 (GRCm39)	A470T	probably benign	Het
Fcgrt	C	T	7: 44,744,675 (GRCm39)	W264*	probably null	Het
Flt3	A	C	5: 147,286,386 (GRCm39)	H733Q	probably benign	Het
Gars1	T	C	6: 55,054,735 (GRCm39)	S681P	probably damaging	Het
Gata2	T	C	6: 88,177,390 (GRCm39)	V140A	possibly damaging	Het
Gm8232	A	T	14: 44,672,384 (GRCm39)	N100I		Het
Grik4	A	G	9: 42,599,367 (GRCm39)	C37R	probably damaging	Het
Grm8	T	C	6: 27,618,678 (GRCm39)	E388G	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igsf9b	C	T	9: 27,234,608 (GRCm39)	T491I	probably damaging	Het
Impa1	C	T	3: 10,389,147 (GRCm39)	V105I	probably damaging	Het
Inf2	A	G	12: 112,567,771 (GRCm39)	T134A	probably damaging	Het
Itgb4	T	A	11: 115,897,302 (GRCm39)	V1521E	probably benign	Het
Iws1	T	A	18: 32,222,540 (GRCm39)	D623E	probably benign	Het
Lhfpl5	T	C	17: 28,795,305 (GRCm39)	S111P	possibly damaging	Het
Lyzl1	T	C	18: 4,169,244 (GRCm39)	C83R	probably damaging	Het
Madd	G	A	2: 91,000,055 (GRCm39)	T617M	possibly damaging	Het
Magi2	A	G	5: 20,433,383 (GRCm39)	T163A	probably damaging	Het
Mdn1	C	A	4: 32,694,599 (GRCm39)	H1107Q	probably damaging	Het
Mfsd14b	A	T	13: 65,214,591 (GRCm39)	Y454N	probably benign	Het
Mrgprb3	T	A	7: 48,292,862 (GRCm39)	I230F	probably benign	Het
Mroh2b	C	T	15: 4,974,505 (GRCm39)	L1162F	probably damaging	Het
Or11i1	G	T	3: 106,729,337 (GRCm39)	H179Q	probably damaging	Het
Or2aj5	T	C	16: 19,425,022 (GRCm39)	Y131C	probably damaging	Het
Or51f23b	C	T	7: 102,402,952 (GRCm39)	M61I	probably benign	Het
Or51m1	T	C	7: 103,578,075 (GRCm39)	L15P	probably damaging	Het
Or5ar1	A	G	2: 85,671,383 (GRCm39)	F251L	probably benign	Het
Or9e1	A	G	11: 58,732,326 (GRCm39)	I129V	probably benign	Het
Pclo	T	C	5: 14,729,050 (GRCm39)	L2636P	unknown	Het
Pfkm	G	A	15: 98,019,191 (GRCm39)	A181T	probably damaging	Het
Pik3r1	C	T	13: 101,839,346 (GRCm39)	A169T	probably benign	Het
R3hdml	T	A	2: 163,337,688 (GRCm39)	M114K	probably damaging	Het
Robo1	C	A	16: 72,821,189 (GRCm39)	R1310S	probably benign	Het
Scnm1	A	T	3: 95,040,186 (GRCm39)	N115K	probably benign	Het
Sfn	A	G	4: 133,328,548 (GRCm39)	V178A	probably damaging	Het
Shank2	C	T	7: 143,645,516 (GRCm39)	T366I	possibly damaging	Het
Siah1a	T	C	8: 87,451,953 (GRCm39)	D177G	probably damaging	Het
Slc37a2	A	C	9: 37,148,624 (GRCm39)	I286S	possibly damaging	Het
Smarce1	T	C	11: 99,119,118 (GRCm39)	T12A	probably benign	Het
Spata31d1c	T	A	13: 65,183,654 (GRCm39)	S399T	probably benign	Het
Specc1	A	G	11: 62,102,506 (GRCm39)	S942G	possibly damaging	Het
Syt13	T	C	2: 92,773,478 (GRCm39)	F164S	probably benign	Het
Topbp1	A	T	9: 103,209,905 (GRCm39)	T851S	probably benign	Het
Ttn	A	T	2: 76,800,015 (GRCm39)	S398T	unknown	Het
Vmn1r12	T	C	6: 57,136,521 (GRCm39)	V206A	probably damaging	Het
Vmn1r224	G	A	17: 20,640,221 (GRCm39)	W266*	probably null	Het
Vmn2r68	T	C	7: 84,883,116 (GRCm39)	D212G	probably benign	Het
Vps13b	G	T	15: 35,770,792 (GRCm39)	K2078N	probably damaging	Het
Zfp251	A	C	15: 76,738,557 (GRCm39)	F179V	possibly damaging	Het

Other mutations in Gabrr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Gabrr2	APN	4	33,085,626 (GRCm39)	missense	probably damaging	1.00
IGL02070:Gabrr2	APN	4	33,095,340 (GRCm39)	nonsense	probably null
IGL03283:Gabrr2	APN	4	33,082,364 (GRCm39)	splice site	probably benign
D3080:Gabrr2	UTSW	4	33,084,466 (GRCm39)	missense	probably damaging	1.00
R1250:Gabrr2	UTSW	4	33,063,273 (GRCm39)	missense	probably benign	0.20
R1381:Gabrr2	UTSW	4	33,081,420 (GRCm39)	missense	probably damaging	1.00
R1630:Gabrr2	UTSW	4	33,085,647 (GRCm39)	missense	probably damaging	1.00
R1782:Gabrr2	UTSW	4	33,085,593 (GRCm39)	missense	probably damaging	1.00
R1830:Gabrr2	UTSW	4	33,077,481 (GRCm39)	missense	probably damaging	1.00
R2000:Gabrr2	UTSW	4	33,084,400 (GRCm39)	missense	probably damaging	1.00
R2125:Gabrr2	UTSW	4	33,095,548 (GRCm39)	missense	probably damaging	1.00
R2679:Gabrr2	UTSW	4	33,071,435 (GRCm39)	missense	probably damaging	1.00
R3695:Gabrr2	UTSW	4	33,071,430 (GRCm39)	missense	probably damaging	1.00
R3891:Gabrr2	UTSW	4	33,081,348 (GRCm39)	missense	probably damaging	1.00
R3892:Gabrr2	UTSW	4	33,081,348 (GRCm39)	missense	probably damaging	1.00
R4902:Gabrr2	UTSW	4	33,095,512 (GRCm39)	missense	probably damaging	1.00
R5328:Gabrr2	UTSW	4	33,082,565 (GRCm39)	missense	probably damaging	1.00
R5330:Gabrr2	UTSW	4	33,082,583 (GRCm39)	missense	possibly damaging	0.87
R5331:Gabrr2	UTSW	4	33,082,583 (GRCm39)	missense	possibly damaging	0.87
R5399:Gabrr2	UTSW	4	33,071,458 (GRCm39)	critical splice donor site	probably null
R7299:Gabrr2	UTSW	4	33,095,284 (GRCm39)	missense	probably benign	0.02
R7301:Gabrr2	UTSW	4	33,095,284 (GRCm39)	missense	probably benign	0.02
R7697:Gabrr2	UTSW	4	33,071,358 (GRCm39)	missense	probably benign
R7860:Gabrr2	UTSW	4	33,081,470 (GRCm39)	nonsense	probably null
R7957:Gabrr2	UTSW	4	33,081,410 (GRCm39)	missense	probably damaging	0.99
R8161:Gabrr2	UTSW	4	33,082,566 (GRCm39)	missense	probably damaging	1.00
R8185:Gabrr2	UTSW	4	33,082,330 (GRCm39)	missense	probably damaging	1.00
R8463:Gabrr2	UTSW	4	33,084,375 (GRCm39)	missense	probably damaging	1.00
R8700:Gabrr2	UTSW	4	33,095,488 (GRCm39)	missense	probably damaging	0.97
R8778:Gabrr2	UTSW	4	33,095,517 (GRCm39)	missense	probably damaging	1.00
R9137:Gabrr2	UTSW	4	33,095,571 (GRCm39)	missense	probably benign	0.36
R9366:Gabrr2	UTSW	4	33,085,771 (GRCm39)	missense
R9484:Gabrr2	UTSW	4	33,071,352 (GRCm39)	missense	possibly damaging	0.64
R9528:Gabrr2	UTSW	4	33,081,483 (GRCm39)	missense	probably benign	0.01
R9704:Gabrr2	UTSW	4	33,063,305 (GRCm39)	missense	possibly damaging	0.58
X0017:Gabrr2	UTSW	4	33,082,328 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTCCCAGACCTGCTCTTTGG -3'
(R):5'- TCTCCCACATTTGAGTCTGGG -3'

Sequencing Primer
(F):5'- CTGGAGAGCTGTAAGTATTCAAGGC -3'
(R):5'- GCGTGACAGTCATTAGCTACCAG -3'

Posted On

2019-10-24